A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004392



Internal ID10371619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:30956893..31183479hg38UCSC Ensembl
Innerchr21:32329212..32555796hg19UCSC Ensembl
Innerchr21:31251083..31477667hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38226587
hg19226585
hg18226585
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762107
Supporting Variants
SamplesSW_1412
Known GenesKRTAP19-8, TIAM1
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv7004392
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer